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D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect mutations in the D2HGDH gene. This gene is responsible for encoding an enzyme involved in the metabolic pathway of the D-2-hydroxyglutarate. Mutations in this gene can lead to D-2-hydroxyglutaric aciduria type 1, a rare metabolic disorder characterized by an accumulation of D-2-hydroxyglutaric acid in the body. This condition can result in a variety of symptoms, including developmental delay, epilepsy, hypotonia, and cardiomyopathy, among others.

The genetic test involves analyzing the patient’s DNA to identify mutations in the D2HGDH gene that are indicative of the disorder. This is crucial for confirming the diagnosis, which can significantly aid in managing the condition through appropriate treatment and interventions. The test is priced at 4400 AED and is conducted at DNA Labs UAE, a facility known for its advanced genetic testing services. By offering this test, DNA Labs UAE provides essential support for patients and families affected by this rare metabolic disorder, enabling better disease management and improved quality of life.

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D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 Genetic Test

Cost: AED 4400.0

Test Details

The D2HGDH gene is associated with a condition called D-2-hydroxyglutaric aciduria type 1 (D2HGA1). D2HGA1 is a rare metabolic disorder characterized by the buildup of a specific molecule called D-2-hydroxyglutaric acid in the body. This buildup can lead to a variety of symptoms, including developmental delay, intellectual disability, seizures, movement disorders, and abnormalities in brain structure.

Test Components and Price

  • Test Name: D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 Genetic Test
  • Price: AED 4400.0

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

3 to 4 Weeks

Method

NGS Technology (Next-Generation Sequencing)

Test Type

Metabolic Disorders

Doctor

General Physician

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with D-2-hydroxyglutaric aciduria type 1.

Importance of NGS Genetic Testing

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a specific condition. In the case of D2HGA1, NGS genetic testing can be used to identify mutations or variations in the D2HGDH gene that may be responsible for the condition. By analyzing the D2HGDH gene, NGS genetic testing can provide valuable information about the genetic cause of D2HGA1 in an individual. This information can be used for diagnosis, genetic counseling, and potentially guiding treatment decisions. It can also help in identifying carriers of the condition within families and in prenatal testing for couples at risk of having a child with D2HGA1.

Importance of Qualified Laboratory and Geneticist

It’s important to note that NGS genetic testing is a complex and specialized procedure that should be performed by a qualified laboratory or geneticist. The results of the test should be interpreted by a healthcare professional with expertise in genetics to ensure accurate diagnosis and appropriate management.

Test Name D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with D-2-hydroxyglutaric aciduria type 1
Test Details

The D2HGDH gene is associated with a condition called D-2-hydroxyglutaric aciduria type 1 (D2HGA1). D2HGA1 is a rare metabolic disorder characterized by the buildup of a specific molecule called D-2-hydroxyglutaric acid in the body. This buildup can lead to a variety of symptoms, including developmental delay, intellectual disability, seizures, movement disorders, and abnormalities in brain structure.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a specific condition. In the case of D2HGA1, NGS genetic testing can be used to identify mutations or variations in the D2HGDH gene that may be responsible for the condition.

By analyzing the D2HGDH gene, NGS genetic testing can provide valuable information about the genetic cause of D2HGA1 in an individual. This information can be used for diagnosis, genetic counseling, and potentially guiding treatment decisions. It can also help in identifying carriers of the condition within families and in prenatal testing for couples at risk of having a child with D2HGA1.

It’s important to note that NGS genetic testing is a complex and specialized procedure that should be performed by a qualified laboratory or geneticist. The results of the test should be interpreted by a healthcare professional with expertise in genetics to ensure accurate diagnosis and appropriate management.

SKU: TEST-2274 Category:

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